Theresa V. Strong

Background: Prader‐Willi syndrome (PWS) is a rare genetic disorder that is identified by the ICD‐10 code Q87.11. Although this code has been used in several large studies, its diagnostic validity has not been evaluated. This study assessed the accuracy of the Q87.11 code for identifying individuals with PWS. Methods: The electronic health record (EHR) of a large health system was reviewed for patients with the Q87.11 code. Additionally, a 10% random sample of patients with free‐text evidence of possible PWS but no code was reviewed. All charts were assessed for PWS using expert review. Diagnostic validity of the Q87.11 code was assessed at both the individual level (i.e., using a single diagnostic code at any point in the EHR to define the patient as having PWS) and encounter level (looking at coding behaviour for individual inpatient or outpatient episodes of care) using sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV). Results: Of 2 718 218 patients with ≥ 4 recorded encounters, 126 had at least one Q87.11 code; 122 were confirmed to have PWS by chart review. This yielded a PPV of 96.8% (95% CI: 92.0%–99.1%). Full‐chart review of patients with text evidence of PWS but no code estimated a code sensitivity of 92.4% (95% CI: 68.9%–100%) and specificity and NPV of 100%. On a per‐encounter basis, sensitivity was 79.4% (95% CI: 62.6%–91.1%) for inpatient and 46.0% (95% CI: 44.1%–47.9%) for outpatient visits. Conclusions: A single use of the Q87.11 diagnostic code produces excellent sensitivity, specificity, PPV and NPV for identifying patients with PWS, although sensitivity is lower for individual outpatient encounters compared with inpatient ones. The overall accuracy of the Q87.11 code supports the validity of using this code in the analysis of administrative claims datasets.

Background: Prader‐Willi syndrome (PWS) is a complex disorder with severe behavioural symptoms that affects the entire family. Relatively little research has focused on the lived experiences of siblings growing up in this unique family environment. Method: Semi‐structured interviews were performed with 25 siblings of individuals with PWS from North America. Participants reflected on their experiences including interpersonal relationships, impacts on well‐being, coping, and relationship with food. Results: Using inductive thematic analysis, we identified several themes: (a) emotion and well‐being impacts, (b) impacts on their relationship with food, and (c) relational/social issues. Positive aspects of their family experience and impacts on job path were identified. Key coping resources were highlighted. Conclusions: This study can inform more family‐oriented support efforts in PWS care models to include sibling support. The findings suggest sibling support should focus on addressing difficult emotional experiences, problematic eating behaviours, and seeking connection with other siblings with similar experiences.

This study aims to better understand the utility of pharmacogenomic (PGx) testing for the rare disease, Prader-Willi syndrome (PWS). Individuals with PWS received PGx testing, and their caregivers were surveyed 1 month after receiving results (n = 42) and 6-months after receiving results (n = 38). A subset of respondents (n = 9) also participated in qualitative interviews. After receiving the PGx results, only one caregiver participant (2.27%) reported making medication changes. Eighty percent of caregiver participants stated the most valuable aspect of the PGx results was the information it provided about future medications their child may need. Interview participants discussed how the report gave them reassurance or verification of their current medication regimen. Only 36.59% of caregiver participants shared PGx results with their child's healthcare providers during the six-month follow-up period. Interview participants described reasons for not sharing the PGx report, including that nothing in the report prompted them to do so, or that they believed providers would not use it. PGx results are perceived as valuable to the PWS population, but sharing PGx results with healthcare providers was limited at the six-month time point.

Background: Prader–Willi syndrome (PWS) is a rare neurodevelopmental disorder with symptoms that impact health and quality of life (QOL). There is limited data on global health, QOL and the relationship with mood in individuals with PWS. Methods: Parents completed three validated assessments, the Glasgow Depression Scale‐Carer Supplement (GDS‐CS), PROMIS Parent‐Proxy Global Health 7 and PROMIS Parent‐Proxy Life Satisfaction 8b, for 527 individuals with PWS. Results: Mean GDS‐CS score was 8.29 (SD 4.55), and 18% had a score of 13+, reflective of possible depression. Mean PROMIS Global Health and Life Satisfaction scores were 41.46 (SD 8.48) and 43.39 (SD 8.48), respectively, and are lower compared to the general population. Both PROMIS scales worsened with age, and scores on the PROMIS and GDS‐CS were associated with parent reports of depression for the person with PWS. Conclusions: These validated instruments may be useful for assessing mood and QOL in PWS.

Prader–Willi syndrome (PWS) is a genetic disorder associated with baseline respiratory impairment caused by multiple contributing etiologies. While this may be expected to increase the risk of severe COVID‐19 infections in PWS patients, survey studies have suggested paradoxically low disease severity. To better characterize the course of COVID‐19 infection in patients with PWS, this study analyses the outcomes of hospitalizations for COVID‐19 among patients with and without PWS. The National Inpatient Sample, an all‐payors administrative claims database of hospitalizations in the United States, was queried for patients with a coded diagnosis COVID‐19 in 2020 and 2021. Hospitalizations for patients with PWS compared to those for patients without PWS using Augmented Inverse Propensity Weighting (AIPW). There were 295 (95% CI: 228–362) COVID‐19 hospitalizations for individuals with PWS and 4,112,400 (95% CI: 4,051,497–4,173,303) for individuals without PWS. PWS patients had a median age of 33 years compared to 63 for those without PWS. Individuals with PWS had higher baseline rates of obesity (47.5% vs. 28.4%). AIPW models show that PWS diagnosis is associated with increased hospital length of stay by 7.43 days, hospital charges by $80,126, and the odds of mechanical ventilation and in‐hospital death (odds ratios of 1.79 and 1.67, respectively). PWS patients hospitalized with COVID‐19 experienced longer hospital stays, higher charges, and increased risk of mechanical ventilation and death. These results suggest that PWS should be considered a risk factor for severe COVID‐19, warranting continued protective measures and vaccination efforts. Further research is needed to validate coding for PWS and assess the impact of evolving COVID‐19 variants and population immunity on this vulnerable population.

Background: Prader–Willi syndrome (PWS) is a genetic disorder characterised by hyperphagia, intellectual disability and increased propensity to a range of medical disorders. To better characterise the clinical presentation of PWS across the lifespan, this study reports on the demographics and clinical diagnosis of individuals with PWS hospitalised in the United States.Methods: The National Inpatient Sample, an all‐payor administrative claims database of hospitalisations in the United States, was queried for patients with a coded diagnosis of PWS from October 2019 through December 2021. Hospitalisations for patients with PWS were matched to five non‐PWS hospitalisations based on age, sex, year and hospital characteristics.Results: There were 4400 (95% CI: 3,885 to 4,915) PWS hospitalisations, with a median age of 24. Compared to controls, PWS hospitalisations had longer hospital stays (median 5 vs. 3 days) and higher in‐hospital mortality (2.2% vs. 1.3%). Infectious (19.0%) and respiratory (16.2%) diagnoses were most common for PWS patients. Codes for overweight or obesity were present in 38.1% of PWS hospitalisations, with Hispanic ethnicity was associated with a higher odds of overweight/obesity in PWS patients (aOR 1.73; 95% CI: 1.11–2.71).Conclusions: PWS hospitalisations are characterised by higher healthcare utilisation and complexity compared to matched controls. The high prevalence of obesity and significant rates of infectious and respiratory conditions highlight specific health challenges for PWS patients. Validation of the Q87.11 administrative claims code is an essential step for ongoing health services research in this condition.

Prader–Willi syndrome (PWS) is a genetic condition caused by a lack of paternally‐expressed imprinted genes at chromosome 15q11.2‐q13 and characterized by hyperphagia, behavioral challenges, and variable intellectual disability. Once a PWS diagnosis is established, sharing diagnosis information with an affected child can be challenging due to its early age of onset and diverse phenotype. This mixed‐methods study aimed to evaluate how parents and guardians have shared a PWS diagnosis with their child and examine the motivating and influencing factors behind their disclosure. Parents and guardians of children with PWS aged at least 5 years completed a survey, and a select group completed an interview. A total of 51 surveys and 15 interviews were completed, with the majority of participants (n = 46; 90%) having shared at least some diagnosis information with their child. Parents and guardians were more likely to disclose if they self‐reported a higher level of knowledge about PWS (p = 0.004) and if their child is currently older (p = 0.02) and/or has at least one sibling (p = 0.046). Interview analysis revealed 15 themes and 10 subthemes that illustrated parents' motivations, methods, and experiences with disclosure. This research provides information for others considering disclosure of PWS or another rare diagnosis with their child.